Quality of life assessment in amyloid transthyretin (ATTR) amyloidosis.

BACKGROUND: Amyloid transthyretin (ATTR) amyloidosis is caused by the systemic deposition of transthyretin molecules, either normal (wild-type ATTR, ATTRwt) or mutated (variant ATTR, ATTRv). ATTR amyloidosis is a disease with a severe impact on patients' quality of life (QoL). Nonetheless, limited attention has been paid to QoL so far, and no specific tools for QoL assessment in ATTR amyloidosis currently exist. QoL can be evaluated through patient-reported outcome measures (PROMs), which are completed by patients, or through scales, which are compiled by clinicians. The scales investigate QoL either directly or indirectly, i.e., by assessing the degree of functional impairment and limitations imposed by the disease. DESIGN: Search for the measures of QoL evaluated in phase 2 and phase 3 clinical trials on ATTR amyloidosis. RESULTS: Clinical trials on ATTR amyloidosis have used measures of general health status, such as the Short Form 36 Health Survey (SF-36), or tools developed in other disease settings such as the Kansas City Cardiomyopathy Questionnaire (KCCQ) or adaptations of other scales such as the modified Neuropathy Impairment Score +7 (mNIS+7). CONCLUSIONS: Scales or PROMs for ATTR amyloidosis would be useful to better characterize newly diagnosed patients and to assess disease progression and response to treatment. The ongoing ITALY (Impact of Transthyretin Amyloidosis on Life qualitY) study aims to develop and validate 2 PROMs encompassing the whole phenotypic spectrum of ATTRwt and ATTRv amyloidosis, that might be helpful for patient management and may serve as surrogate endpoints for clinical trials.

The electrocardiogram in the diagnosis and management of patients with hypertrophic cardiomyopathy.

In an era of rapid technological development and evolving diagnostic possibilities, the electrocardiogram (ECG) is living an authentic "renaissance" in myocardial diseases. To date, the ECG remains an irreplaceable first step when evaluating patients with hypertrophic cardiomyopathy (HCM) and an abnormal ECG may be the only manifestation of disease at an early stage. In some instances, specific electrical anomalies may differentiate HCM from phenocopies such as cardiac amyloidosis and glycogen storage diseases. The exponential growth in knowledge of the complexity of HCM has led to new challenges in terms of early identification of the disease, differential diagnosis, risk stratification, and development of targeted therapies. In this scenario, the apparently "old fashioned" ECG and the array of ECG-based techniques, ranging from Holter monitoring and loop recorders to exercise testing, are as contemporary as ever. In the present review, we discuss the current role of the ECG in the diagnosis and management of HCM, focusing on various clinical settings where its appropriate use and interpretation can make a difference.

Assessment of patients with hereditary transthyretin amyloidosis - understanding the impact of management and disease progression.

Timely diagnosis of hereditary variant transthyretin (ATTRv) amyloidosis is critical for appropriate treatment and optimal outcomes. Significant differences are seen between patients receiving treatment and those who are not, though disease progression may continue despite treatment in some patients. Healthcare professionals caring for patients with ATTRv amyloidosis therefore need reliable ongoing assessments to understand the continuing course of disease and make appropriate treatment choices on an individual basis. Various signs and symptoms experienced by patients may be evaluated as indicators of disease progression, though there is currently no validated score that can be used for such ongoing assessment. Recognizing this situation, a group of clinicians highly experienced in ATTR amyloidosis developed an approach to understand and define disease progression in diagnosed and treated patients with ATTRv amyloidosis. The suggested approach is based on the recognition of distinct phenotypes which may usefully inform the particular tools, tests and investigations that are most likely to be appropriate for individual patients. It is aimed at implementing appropriate and ongoing assessment of patients being treated for ATTRv amyloidosis, such that the effectiveness of management can be usefully assessed throughout the course of disease and management can be tailored according to the patient's requirements.

Analogies and disparities among scintigraphic bone tracers in the diagnosis of cardiac and non-cardiac ATTR amyloidosis.

In this issue of JNC, BW Spery and Coll report a retrospective analysis of 57 patients with transthyretin-related amyloidosis (ATTR) in an advanced phase of the disease who underwent 99mTechnetium-pyrophosphate (99mTcPYP) scintigraphy. Although relatively small and "negative," the study is relevant since it broadens our knowledge on the uptake of "bone tracers" in ATTR and contributes to understand the limitations of the clinical use of scintigraphy in this disease. The paper raises, directly or indirectly, at least three questions: To what extent are the different bone tracers interchangeable for the diagnosis of ATTR cardiac amyloidosis? Are bone tracers able to image non-cardiac ATTR amyloidosis? What is the explanation for the variable performance of the different bone tracers in the diagnosis of cardiac and extracardiac ATTR amyloidosis?

Cardioverter-defibrillators after MADIT-II: the balance between weight of evidence and treatment costs.

The possibility of using implantable cardioverter-defibrillators (ICDs) for primary prevention of sudden death in selected high-risk patients has prompted a series of prospective controlled studies. Recently, the MADIT II study highlighted the possibility of effective primary prevention of sudden death in patients with coronary artery disease selected by straightforward clinical data and without expensive screening (electrophysiological study). For patients with previous myocardial infarction and low left ventricular ejection fraction (